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Article

Failure of SOX9 regulation in 46XY disorders of sex development with SRY, SOX9 and SF1 mutations.

PloS one - 11 Mar 2011

Knower Kevin C, Kelly Sabine, Ludbrook Louisa M, Bagheri-Fam Stefan, Sim Helena, Bernard Pascal, Sekido Ryohei, Lovell-Badge Robin, Harley Vincent R

Abstract excerpt

BACKGROUND: In human embryogenesis, loss of SRY (sex determining region on Y), SOX9 (SRY-related HMG box 9) or SF1 (steroidogenic factor 1) function causes disorders of sex development (DSD). A defining event of vertebrate sex determination is male-specific upregulation and maintenance of SOX9 expression in gonadal pre-Sertoli cells, which is preceded by transient SRY expression in mammals. In mice, Sox9...

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Share to Disorder of Sex Development, 46,XY
Share to Enhancer Elements, Genetic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutant Proteins

Share to Organ Specificity

Share to Sex-Determining Region Y Protein

Share to SOX9 Transcription Factor

Share to Steroidogenic Factor 1

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Source

Open in PubMed Open full text

Identifiers

PMID: 21412441
DOI: 10.1371/journal.pone.0017751
PMCID: PMC3055899

Genes

SOX9
SRY
TES

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Failure of SOX9 regulation in 46XY disorders of sex development with SRY, SOX9 and SF1 mutations.PMID 21412441Read ↗

Human sex reversal is caused by duplication or deletion of core enhancers upstream of SOX9Semantic proximity Read ↗

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Mutant NR5A1/SF-1 in patients with disorders of sex development shows defective activation of the SOX9 TESCO enhancer.Semantic proximity Read ↗

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Up‐regulation of SOX9 in human <i>sex‐determining region on the Y chromosome (SRY)</i>‐negative XX malesSemantic proximity Read ↗

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